全基因组关联研究
荟萃分析
白内障
计算生物学
遗传学
生物
生物信息学
医学
单核苷酸多态性
基因型
基因
内科学
作者
Santiago Diaz‐Torres,Samantha Sze‐Yee Lee,Luis M. García‐Marín,Adrián I. Campos,Gareth Lingham,Jue‐Sheng Ong,David A. Mackey,Kathryn P. Burdon,Michael Hunter,Xianjun Dong,Stuart MacGregor,Puya Gharahkhani,Miguel E. Rentería
标识
DOI:10.1038/s41467-024-53212-6
摘要
Age-related cataracts is a highly prevalent eye disorder that results in the clouding of the crystalline lens and is one of the leading causes of visual impairment and blindness. The disease is influenced by multiple factors including genetics, prolonged exposure to ultraviolet radiation, and a history of diabetes. However, the extent to which each of these factors contributes to the development of cataracts remains unclear. Our study identified 101 independent genome-wide significant loci, 57 of which are novel. We identified multiple genes and biological pathways associated with the cataracts, including four drug-gene interactions. Our results suggest a causal association between type 1 diabetes and cataracts. Also, we highlighted a surrogate measure of UV light exposure as a marker of cataract risk in adults.
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